Liver Detox Gene – CYP17A1

This is part of a continuing series on the Phase I and Phase II detoxification system.

CYP17A1 is involved in the formation and metabolism of steroid hormones such as precursors to androgens and estrogens.  Major pathological disorders involved with this gene include adrenal hyperplasia. [ref]

A CYP17A1 inhibitor (abiraterone) was approved by the FDA a few years ago for late stage prostate cancer treatment [ref].

rs743572 (G is minor allele, fairly common, also known as -34T/C and CYP17)

  • Study showed a slightly increased risk in prostate cancer for the minor allele in African Americans.  [ref]
  • 2014 study shows that those who are homozygous for the CYP17A1 rs743572 (G) and another polymorphism, rs2234693 (C allele), were at a “significantly increased risk for leiomyoma (OR = 19.8…)”.  The study was looking at the association with phthalates, which are thought to be estrogenic endocrine disruptors.  [ref]  Uterine fibroids are a type of leiomyoma.
  • A 2014 study looked at this polymorphism in conjunction with DHEA levels and tardive dyskinesia (involuntary movement disorder usually due to drug side effect).   The study found that those who were homozygous for GG had lower DHEAS levels and less chance of developing tardive dyskinesia.  This was a departure from the theory that this polymorphism would increase DHEAS levels.  [ref]

rs6162 (G allele, common polymorphism)

  • This polymorphism is associated with a 20% difference in DHEA-S levels. It is also part of a haplotype influencing prostate cancer progression.  [ref]

rs11191548 –

  • The C allele associated with 7% increase in left ventricular mass according to a 2015 study.  The introduction of the study gives a good background on the role of steroid hormones in cardiovascular disease.  [ref]

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